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Improving Variant Calling using Haplotype Information

Andrew Carroll
Daniel Cook
(2021)

Abstract

In this blog, we discuss a new channel in DeepVariant which encodes haplotype information in long-read data, and was released with DeepVariant v1.1. We review how haplotypes relate to variant calling, show examples improved by the channel, and quantify the accuracy improvement with PacBio HiFi.